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<h1 id="firstHeading" class="firstHeading mw-first-heading"><span class="mw-page-title-main">Microphthalmie-assoziierter Transkriptionsfaktor</span></h1>
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<div id="mw-content-text" class="mw-body-content mw-content-ltr" lang="de" dir="ltr"><div class="mw-content-ltr mw-parser-output" lang="de" dir="ltr"><table class="wikitable hintergrundfarbe-basis infobox float-right" id="Vorlage_Infobox_Protein_" style="font-size:90%; margin-top:0; width:350px;" summary="Infobox Protein">
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<th colspan="3" style="background:#90EE90; color:#202122;">Microphthalmie-assoziierter Transkriptionsfaktor
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<td colspan="3" class="hintergrundfarbe1" style="font-size:smaller;">
<p>Vorhandene Strukturdaten: <span class=""><a rel="nofollow" class="external text" href="https://www.rcsb.org/structure/4C7N">4C7N</a></span>
</p>
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<th colspan="3" style="background:#90EE90; color:#202122;;">Eigenschaften des menschlichen Proteins
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<td><a href="Molare_Masse" title="Molare Masse">Masse</a>/Länge <a href="Prim%C3%A4rstruktur" title="Primärstruktur">Primärstruktur</a>
</td>
<td colspan="2" style="text-align:center;">357 bis 526 Aminosäuren
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<td><a href="Sekund%C3%A4rstruktur" title="Sekundärstruktur">Sekundär-</a> bis <a href="Quart%C3%A4rstruktur" title="Quartärstruktur">Quartärstruktur</a>
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<td colspan="2" style="text-align:center;">Homo-/Heterodimer
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<td><a href="Koenzym" class="mw-redirect" title="Koenzym">Kofaktor</a>
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<td colspan="2" style="text-align:center;">(TFE3, TFEB, TFEC)
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<td><a href="Isoform" title="Isoform">Isoformen</a>
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<td colspan="2" style="text-align:center;">12
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<th colspan="3" style="background:#90EE90; color:#202122;">Bezeichner
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<tr>
<td><a href="Human_Genome_Organisation" title="Human Genome Organisation">Gen-Namen</a>
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<td colspan="2" class="" style="text-align:center;"><i><a rel="nofollow" class="external text" href="https://www.genenames.org/tools/search/#!/all?query=7105">MITF</a></i>, CMM8, MI, WS2, WS2A, bHLHe32
</td></tr>
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<td>Externe IDs
</td>
<td colspan="2" class="">
<ul><li><a href="Online_Mendelian_Inheritance_in_Man" title="Online Mendelian Inheritance in Man">OMIM</a>: <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/omim/156875">156875</a></li>
<li><a href="UniProt" title="UniProt">UniProt</a> <a rel="nofollow" class="external text" href="https://www.uniprot.org/uniprotkb/O75030">O75030</a></li>
<li><a href="Mouse_Genome_Informatics" title="Mouse Genome Informatics">MGI</a>: <a rel="nofollow" class="external text" href="https://www.informatics.jax.org/marker/MGI:104554">104554</a></li></ul>
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<th colspan="3" style="background:#90EE90; color:#202122;">Vorkommen
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<td style="background:#C3FDB8; color:#202122;">Homologie-Familie
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<td colspan="2" style="text-align:center;"><a rel="nofollow" class="external text" href="http://hogenom.univ-lyon1.fr/query_sequence?seq=O75030">Hovergen</a>
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<td colspan="3" style="background:#90EE90; color:#202122; text-align:center;"><a href="Homologie_(Genetik)#Homologie_zwischen_verdoppelten_oder_fremden_Genen" title="Homologie (Genetik)">Orthologe</a>
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<td style="background:#C3FDB8; color:#202122;">
</td>
<td style="background:#C3FDB8; color:#202122; text-align:center;">Mensch
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<td style="background:#C3FDB8; color:#202122; text-align:center;">Hausmaus
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<td style="background:#C3FDB8; color:#202122;"><a href="Entrez_Gene" title="Entrez Gene">Entrez</a>
</td>
<td><span class=""><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene&cmd=retrieve&dopt=default&list_uids=4286&rn=1">4286</a></span>
</td>
<td><span class=""><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene&cmd=retrieve&dopt=default&list_uids=17342&rn=1">17342</a></span>
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<tr>
<td style="background:#C3FDB8; color:#202122;"><a href="Ensembl" title="Ensembl">Ensembl</a>
</td>
<td><span class=""><small><small><a rel="nofollow" class="external text" href="http://www.ensembl.org/Homo_sapiens/geneview?gene=ENSG00000187098;db=core">ENSG00000187098</a></small></small></span>
</td>
<td><span class=""><small><small><a rel="nofollow" class="external text" href="http://www.ensembl.org/Mus_musculus/geneview?gene=ENSMUSG00000035158;db=core">ENSMUSG00000035158</a></small></small></span>
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<td style="background:#C3FDB8; color:#202122;"><a href="UniProt" title="UniProt">UniProt</a>
</td>
<td><a rel="nofollow" class="external text" href="https://www.uniprot.org/uniprotkb/O75030">O75030</a>
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<td><a rel="nofollow" class="external text" href="https://www.uniprot.org/uniprotkb/Q08874">Q08874</a>
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<td style="background:#C3FDB8; color:#202122;"><a href="National_Center_for_Biotechnology_Information" title="National Center for Biotechnology Information">Refseq</a> (mRNA)
</td>
<td><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000248">NM_000248</a>
</td>
<td><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_001113198">NM_001113198</a>
</td></tr>
<tr>
<td style="background:#C3FDB8; color:#202122;"><a href="National_Center_for_Biotechnology_Information" title="National Center for Biotechnology Information">Refseq</a> (Protein)
</td>
<td><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NP_000239">NP_000239</a>
</td>
<td><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NP_001106669">NP_001106669</a>
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<td style="background:#C3FDB8; color:#202122;"><a href="Genlocus" title="Genlocus">Genlocus</a>
</td>
<td><span class=""> <a rel="nofollow" class="external text" href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human?db=hg38&position=chr3:69739435-69968337">Chr 3: 69.74 – 69.97 Mb</a> </span>
</td>
<td><span class=""> <a rel="nofollow" class="external text" href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=mm10&position=chr6:97807058-98021349">Chr 6: 97.81 – 98.02 Mb</a> </span>
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<td style="background:#C3FDB8; color:#202122;"><a href="PubMed" title="PubMed">PubMed</a>-Suche
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<td><span class=""><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Link&LinkName=gene_pubmed&from_uid=4286">4286</a></span>
</td>
<td><span class=""><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Link&LinkName=gene_pubmed&from_uid=17342">17342</a></span>
<p><span class="editoronly" style="display:none;"></span>
</p>
</td></tr></tbody></table><p><span class="editoronly" style="display:none;"></span><b>MITF</b> (<b>Mikrophthalmie-assoziierter Transkriptionsfaktor</b>) ist ein <a href="Protein" title="Protein">Protein</a> in <a href="Wirbeltiere" title="Wirbeltiere">Wirbeltieren</a>, das vom <b>MITF</b>-Gen kodiert wird. Es ist der mit <a href="Tyrosinase" title="Tyrosinase">Tyrosinase</a> und <a href="5%2C6-Dihydroxyindol-2-carbons%C3%A4ure-Oxidase" title="5,6-Dihydroxyindol-2-carbonsäure-Oxidase">TRP-1</a> assoziierte <a href="Transkriptionsfaktor" title="Transkriptionsfaktor">Transkriptionsfaktor</a>. MITF bindet an die DNA-Sequenzen 5'-CACGTG-3' oder 5'-CATGTG-3', der sogenannten E-Box. Beim Menschen sind zehn <a href="Paralog" class="mw-redirect" title="Paralog">paraloge</a> <a href="Isoform" title="Isoform">Isoformen</a> von MITF bekannt, die in verschiedenen Gewebetypen lokalisiert sind. MITF spielt eine entscheidende Rolle bei der <a href="Differenzierung_(Biologie)" title="Differenzierung (Biologie)">Differenzierung</a> mehrerer Gewebe. <a href="Mutation" title="Mutation">Mutationen</a> des <i>MITF</i>-<a href="Gen" title="Gen">Gens</a> können zu verschiedenen Formen des <a href="Leuzismus" title="Leuzismus">Leuzismus</a> und der <a href="Scheckung" title="Scheckung">Scheckung</a> führen. Außerdem treten Fehlbildungen der Augen auf. Beim Menschen können Mutationen am <i>MITF</i>-Gen das <a href="Tietz-Syndrom" title="Tietz-Syndrom">Tietz-Syndrom</a> oder das <a href="Waardenburg-Syndrom" title="Waardenburg-Syndrom">Waardenburg-Syndrom</a> verursachen.<sup id="cite_ref-1" class="reference"><a href="#cite_note-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup>
</p><p>Darüber hinaus ist das MITF-Gen im <a href="Metastase" title="Metastase">metastasierten</a> <a href="Melanom" class="mw-redirect" title="Melanom">Melanom</a> in 10–16 % aller Fälle aktiviert. Die genaue Rolle von MITF in der Melanomentstehung und Progression ist aber noch ungeklärt.<sup id="cite_ref-2" class="reference"><a href="#cite_note-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup>
</p>
<div class="mw-heading mw-heading2"><h2 id="Einzelnachweise">Einzelnachweise</h2></div>
<ol class="references">
<li id="cite_note-1"><span class="mw-cite-backlink"><a href="#cite_ref-1">↑</a></span> <span class="reference-text"><a href="UniProt" title="UniProt">UniProt</a> <a rel="nofollow" class="external text" href="https://www.uniprot.org/uniprotkb/O75030">O75030</a></span>
</li>
<li id="cite_note-2"><span class="mw-cite-backlink"><a href="#cite_ref-2">↑</a></span> <span class="reference-text">J. N. Dynek u. a.: <a rel="nofollow" class="external text" href="http://cancerres.aacrjournals.org/cgi/content/full/68/9/3124"><i>Microphthalmia-associated transcription factor is a critical transcriptional regulator of melanoma inhibitor of apoptosis in melanomas.</i></a> In: <i>Cancer Res</i> 68, 2008, S. 3124–3132. <a class="external mw-magiclink-pmid" rel="nofollow" href="https://www.ncbi.nlm.nih.gov/pubmed/18451137?dopt=Abstract">PMID 18451137</a></span>
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Dieser Artikel wurde von <a class="external text" title="Zuletzt bearbeitet am 2023-06-18" href="https://de.wikipedia.org/wiki/?title=Microphthalmie-assoziierter_Transkriptionsfaktor&oldid=234705278">Wikipedia</a> herausgegeben. Der Text ist unter <a class="external text" href="https://creativecommons.org/licenses/by-sa/4.0/deed.de">Creative Commons Attribution-Share Alike 4.0</a> verfügbar, sofern nicht anders angegeben. Für die Mediendateien können zusätzliche Bedingungen gelten.
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